Variant report

Variant	rs4950301
Chromosome Location	chr1:146557470-146557471
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:146557162-146557532	IMR90	lung:	n/a	chr1:146557345-146557355 chr1:146557341-146557357 chr1:146557339-146557359 chr1:146557344-146557359 chr1:146557342-146557356
2	MAFF	chr1:146557110-146557527	K562	blood:	n/a	chr1:146557342-146557356 chr1:146557336-146557354
3	MAFK	chr1:146557160-146557531	HepG2	liver:	n/a	chr1:146557345-146557355 chr1:146557341-146557357 chr1:146557339-146557359 chr1:146557344-146557359 chr1:146557342-146557356
4	MAX	chr1:146557436-146557470	A549	lung:	n/a	n/a
5	MAFK	chr1:146557161-146557521	K562	blood:	n/a	chr1:146557345-146557355 chr1:146557341-146557357 chr1:146557339-146557359 chr1:146557344-146557359 chr1:146557342-146557356
6	MAFK	chr1:146557181-146557530	HepG2	liver:	n/a	chr1:146557345-146557355 chr1:146557341-146557357 chr1:146557339-146557359 chr1:146557344-146557359 chr1:146557342-146557356
7	MAFF	chr1:146557167-146557522	HepG2	liver:	n/a	chr1:146557342-146557356 chr1:146557336-146557354
8	MAFK	chr1:146557167-146557527	Hela-S3	cervix:	n/a	chr1:146557345-146557355 chr1:146557341-146557357 chr1:146557339-146557359 chr1:146557344-146557359 chr1:146557342-146557356

No.	Distal block	Cell Line	Cell type
1	chr1:146555582..146557721-chr16:70906703..70908588,2	MCF-7	breast:
2	chr1:146556050..146557611-chr16:70910877..70913228,2	K562	blood:
3	chr1:146555308..146557751-chr1:146572492..146574636,3	MCF-7	breast:
4	chr1:146554717..146557790-chr1:146713275..146715735,7	MCF-7	breast:
5	chr1:146555657..146558762-chr1:146628491..146630489,3	K562	blood:
6	chr1:146553836..146557884-chr1:146641755..146644199,5	MCF-7	breast:
7	chr1:146555458..146558111-chr16:71130666..71132660,2	K562	blood:
8	chr1:146555822..146557545-chr1:146680381..146682107,2	K562	blood:
9	chr1:146554548..146558121-chr1:149223419..149225403,4	MCF-7	breast:
10	chr1:146554384..146557759-chr1:149221710..149225398,8	K562	blood:
11	chr1:146554522..146557720-chr1:147805011..147808218,6	K562	blood:
12	chr1:146554412..146557592-chr1:149221795..149226039,8	K562	blood:
13	chr1:146556127..146557844-chr1:146621918..146623666,2	K562	blood:
14	chr1:146555785..146557578-chr1:146599828..146602177,2	MCF-7	breast:
15	chr1:146555833..146557676-chr1:146673742..146675974,2	K562	blood:
16	chr1:146556287..146558878-chr1:146718178..146719701,2	K562	blood:
17	chr1:146550590..146559110-chr1:146711930..146718078,31	K562	blood:
18	chr1:146552515..146557737-chr1:146711619..146718083,31	K562	blood:
19	chr1:146554115..146557849-chr1:146637949..146646936,17	MCF-7	breast:
20	chr1:146555129..146557611-chr1:146720507..146722463,2	K562	blood:
21	chr1:144531278..144537146-chr1:146553717..146557612,11	K562	blood:
22	chr1:146556237..146558535-chr1:147070551..147072310,2	K562	blood:
23	chr1:146510544..146512904-chr1:146555893..146558120,2	K562	blood:
24	chr1:146502664..146505503-chr1:146555291..146557477,4	MCF-7	breast:
25	chr1:146554089..146558005-chr1:146638440..146645674,16	K562	blood:
26	chr1:146556283..146558041-chr16:71021213..71022835,2	K562	blood:
27	chr1:146555804..146557597-chr1:146578723..146581145,2	MCF-7	breast:
28	chr1:146554921..146557589-chr7:94462581..94464231,2	MCF-7	breast:
29	chr1:146555582..146557565-chr1:146708158..146710932,2	K562	blood:
30	chr1:146554089..146558005-chr1:146640920..146646223,16	K562	blood:
31	chr1:144532709..144537146-chr1:146553385..146558827,17	K562	blood:

Variant related genes	Relation type
ENSG00000230832	TF binding region
ENSG00000131781	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000116128	Chromatin interaction
ENSG00000202408	Chromatin interaction
ENSG00000131791	Chromatin interaction
ENSG00000273071	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000223316	Chromatin interaction
ENSG00000219807	Chromatin interaction
ENSG00000237188	Chromatin interaction
ENSG00000131778	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10157212	0.87[ASN][1000 genomes]
rs1596236	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17160592	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1867140	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2355379	0.81[ASN][1000 genomes]
rs2477568	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477569	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477570	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2584952	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2985722	0.85[ASN][1000 genomes]
rs3011803	0.85[ASN][1000 genomes]
rs3011808	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011809	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3011810	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35227958	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4492676	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4494193	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4623760	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs492243	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs493000	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494122	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950302	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950303	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950354	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950355	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950356	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950359	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950360	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950361	0.85[EUR][1000 genomes]
rs4950362	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950364	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517201	0.85[ASN][1000 genomes]
rs535827	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs556976	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56060937	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56359955	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs580852	0.85[ASN][1000 genomes]
rs584107	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59064267	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604106	0.85[ASN][1000 genomes]
rs604716	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs618575	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618622	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs630630	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs632334	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632861	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648937	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593732	0.81[ASN][1000 genomes]
rs6593733	0.81[ASN][1000 genomes]
rs659728	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660096	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660604	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661116	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671690	0.85[ASN][1000 genomes]
rs675782	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675809	0.91[ASN][1000 genomes]
rs676288	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs678111	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs685741	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719969	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72704299	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72706414	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72706418	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs942689	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9659068	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9663073	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs976620	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs976621	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs976622	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757753	chr1:145883119-146697542	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
4	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
6	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
7	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
8	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv946298	chr1:146510432-146557539	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
10	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
11	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
14	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
15	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
16	nsv872255	chr1:146550780-146969712	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
17	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4950301	CHD1L	cis	Whole Blood	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146556600-146557600	Bivalent/Poised TSS	Thymus	Thymus
2	chr1:146557000-146561000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:146557200-146557600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:146557200-146561000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:146557400-146561000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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